Naslov
FV, FII, MTHFR and PAI-1 polymorphisms in patients with deep venous thrombosis

Autori
Nikolac, Nora ; Žirović, Marijana ; Štefanović, Mario ; Topić, Elizabeta

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
The fourth European-American School in Forensic Genetics and Mayo Clinic Course in Advanced Molecular and Cellular Medicine Final program and abstracts / Schanfield, Moses ; Primorac, Dragan ; Vuk-Pavlović, Stanimir - Zagreb : Exto produkcija, 2005

Skup
The fourth European-American School in Forensic Genetics and Mayo Clinic Course in Advanced Molecular and Cellular Medicine

Mjesto i datum
Dubrovnik, Hrvatska, 05.09.2005. - 09.09.2005

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
FV; FII; MTHFR; PAI-1 polymorphisms; deep venous thrombosis

Sažetak
Coagulation factors V (FV), II (FII), plasminogen activator inhibitor-1 (PAI-1) together with the methyltetrahydrofolate reductase (MTHFR) are considered to be risk factors for coagulation and fibrinolysis disorders. Aim is to investigate frequency of these polymorphisms in patients with deep venous thrombosis (DVT) and to determine whether there is a difference in polymorphisms distribution between healthy controls and DVT patients. Methods: Polymorphisms for FV, FII and MTHFR were determined using PCR-RFLP method, while PAI-1 genotype is determined with PCR-SSCP. Genotype distributions for FV polymorphism (N=215) were 94%, 5.1% and 0.9% in healthy group vs. 87.3%, 12.7% and 0% in the DVT group (N=181) for wt/wt, wt/mut and mut/mut. Allele frequencies were 96.5% and 3.5% in healthy group vs. 93.6% and 6.4% in DVT group for wt and mut. Distributions for FII genotypes (N=87) were 97.7%, 2.3% and 0% in healthy group vs. 93.9%, 6.1% and 0% in the DVT group (N=180) for wt/wt, wt/mut and mut/mut. Allele frequencies were 98.9% and 1.1% in healthy group vs. 96.9% and 3.1% in DVT group. Genotype distributions for MTHFR polymorphism (N=103) were 35%, 57.3% and 7.8% in healthy group vs. 46.4%, 41.8% and 11.8% in the DVT group (N=153) for wt/wt, wt/mut and mut/mut. Allele frequencies were 63.6% and 36.4% in healthy group vs. 67.3% and 32.7% in DVT group. Distributions for PAI-1 polymorphism (N=104) were 30.8%, 52.9% and 16.3% in healthy group vs. 31.9%, 47.2% and 20.8% in the DVT group (N=72) for wt/wt, wt/mut and mut/mut. Allele frequencies were 57.2% and 42.8% in healthy group vs. 55.6% and 44.4% in DVT group. Distribution comparison between DVT patients and healthy controls showed significant difference only for the FV genotype (p=0.034 Chi square test ; OR=2.26 with the 95% CI=1.11-4.60) while other investigated genotypes showed no difference in distribution between these groups. Our investigation showed only FV mutation to be a risk factor for DVT.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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